Identification of a Thr-to-Met mutation in the skeletal muscle sodium channel gene in hyperkalemic periodic paralysis of a Japanese family.
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A young Chinese American male presented with progressive proximal muscle weakness and inability to stand and walk. Investigations revealed marked hypokalemia and thyroid studies revealed hyperthyroidism consistent with Graves' disease. Thyrotoxic periodic paralysis is a rare disorder in the Western hemisphere, yet needs to be considered as a cause particularly in patients of Oriental origin presenting with sudden weakness. The case history and update of current knowledge of thyrotoxic periodic paralysis is presented.
The authors previously reported a new syndrome, angiotensin-converting enzyme dysfunction syndrome (ACEDS), which is clinically characterized by mild systemic hypertension, a hypokalemic alkalosis, and hyperreninism with a high concentration of angiotensin-I (ANG-I), a normal angiotensin-II (ANG-II) value, and a normal aldosterone level. In the present study, they investigated the diagnosis and differentiation of diseases concomitant with hyperreninism, such as ACEDS, Bartter's syndrome, familial periodic paralysis, and renovascular hypertension treated with captopril for two months, and discussed the pathogenesis of ACEDS.
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A case report was made of a 24-year-old man suffering from hypogonadotropic eunuchoidism associated with a hypokalemic type of familiar periodic paralysis. The attacks were observed only during the period of continual administration of the oil solution of 115.7 mg of testosterone enanthate and 20.0 mg of testosterone propionate, intramuscularly as a depot. From the findings on this patient, it was concluded that testosterone might possibly play a role in the occurrence of attacks in the case of periodic paralysis.
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